McCune-Albright syndrome

Last revised by Ciléin Kearns on 9 Mar 2024

McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the triad:

Presentation is variable 1:

  • leg pain, limp, pathological fracture: ~ 75%

  • abnormal vaginal bleeding: ~25%

  • coast of Maine café au lait spots

    • predominantly on posterior trunk: ~40% (range 30-50%)

    • often ipsilateral to bone lesions

    • irregular borders

  • hypercortisolism (Cushing syndrome): ~7% 3

  • hyperthyroidism 5

  • phosphate wasting

  • Pituitary adenomas that secrete growth hormone

MAS results from a sporadically occurring somatic GNAS gene mutation 2

The condition is named after:

  • Fuller Albright (1900-1969), an American endocrinologist 

  • Donovan James McCune (1902-1976), an American pediatrician 

  • Carl Sternberg (1872-1935), an Austrian pathologist 

Role of imaging in MAS is predominantly to identify and define fibrous dysplasia (refer to the article for specific features). It is also complementary in identifying related endocrinological conditions.

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